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AKAP17A

Synonyms
721P, AKAP-17A, CCDC133, CXYorf3, DXYS155E, PRKA17A, SFRS17A, XE7, XE7Y
External resources
Summary
This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,377
Likely benign
204
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on AKAP17A gene.

Phenotype class
Patients in 3billion (%)

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